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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  25

Weissbach, Stephan; Sys, Stanislav; Hewel, Charlotte et al.

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

BMC GENOMICS. Bd. 22. H. 1. 2021


Hoffmann, Esther M.; Aghayeva, Fidan; Schuster, Alexander K. et al.

Results of childhood glaucoma surgery over a long-term period

ACTA OPHTHALMOLOGICA. Bd. 100. H. 2. 2021 S. E448-E454


Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C. et al.

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

MOLECULAR GENETICS AND METABOLISM. Bd. 132. H. 4. 2021 S. 234-243


Formes, Henning; Bernardes, Joana P.; Mann, Amrit et al.

The gut microbiota instructs the hepatic endothelial cell transcriptome

ISCIENCE. Bd. 24. H. 10. 2021


Navandar, Mohit; Martin-Garcia, Elena; Maldonado, Rafael et al.

Transcriptional signatures in prefrontal cortex confer vulnerability versus resilience to food and cocaine addiction-like behavior

SCIENTIFIC REPORTS. Bd. 11. H. 1. 2021



Ding, Can; Beetz, Rolf; Rittner, Gabriele et al.

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020


Haeuser, Friederike; Goekce, Seyfullah; Werner, Gesa et al.

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition

MOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 1. 2020 S. 27-35


Domingo-Rodriguez, Laura; Ruiz de Azua, Inigo; Dominguez, Eduardo et al.

A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addiction

NATURE COMMUNICATIONS. Bd. 11. H. 1. 2020



Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. Bd. 146. H. 4. 2020 S. 901-911


Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.

Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

JOURNAL OF CLINICAL IMMUNOLOGY. Bd. 40. H. SUPPL 1. 2020 S. S57-S59


Ruffini, Nicolas; Klingenberg, Susanne; Schweiger, Susann et al.

Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics Scale

CELLS. Bd. 9. H. 12. 2020



Beheshtian, Maryam; Akhtarkhavari, Tara; Mehvari, Sepideh et al.

Comprehensivegenotype-phenotypecorrelation inAP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients

CLINICAL GENETICS. 2020


Wendelmuth, M.; Wiliam, M.; Todorov, H. et al.

Dynamic longitudinal behavior in animals exposed to chronic social defeat stress

PLOS ONE. Bd. 15. H. 7. 2020


Gerber, Susanne; Wendelmuth, Marlon; Willam, Michael et al.

Dynamic longitudinal behaviour in animals exposed to chronic social defeat stress

Plos One. Bd. 15. 2020 S. 7


Gomez, R.; Hafezi, N.; Amrani, M. et al.

Genetic findings in miscarriages and their relation to the number of previous miscarriages

ARCHIVES OF GYNECOLOGY AND OBSTETRICS. 2020


Kiouptsi, Klytaimnistra; Pontarollo, Giulia; Todorov, Hristo et al.

Germ-free housing conditions do not affect aortic root and aortic arch lesion size of late atherosclerotic low-density lipoprotein receptor-deficient mice

GUT MICROBES. Bd. 11. H. 6. 2020 S. 1809-1823


Gucev, Zoran; Tasic, Velibor; Bogevska, Ivona et al.

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

EUROPEAN JOURNAL OF MEDICAL GENETICS. Bd. 63. H. 1. 2020


Guilherme, Malena dos Santos; Todorov, Hristo; Osterhof, Carina et al.

Impact of Acute and Chronic Amyloid-beta Peptide Exposure on Gut Microbial Commensals in the Mouse

FRONTIERS IN MICROBIOLOGY. Bd. 11. 2020


Cooper, Alexis; Butto, Tamer; Hammer, Niklas et al.

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

NATURE COMMUNICATIONS. Bd. 11. H. 1. 2020


Fischer, Caroline; Endle, Heiko; Schumann, Lana et al.

Prevention of age-associated neuronal hyperexcitability with improved learning and attention upon knockout or antagonism of LPAR2

CELLULAR AND MOLECULAR LIFE SCIENCES. 2020


Casanovas, Sonia; Schlichtholz, Laura; Muehlbauer, Sophia et al.

Rbfox1 Is Expressed in the Mouse Brain in the Form of Multiple Transcript Variants and Contains Functional E Boxes in Its Alternative Promoters

FRONTIERS IN MOLECULAR NEUROSCIENCE. Bd. 13. 2020


Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen et al.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 182. H. 9. 2020 S. 2068-2076